Canonical Allele Identifier: CA402113464

Gene: DSC2

Linked Data

• dbSNP Id: rs1395931570
• gnomAD v2: 18-28669439-G-A
• gnomAD v3: 18-31089476-G-A
• gnomAD v4: 18-31089476-G-A
• MyVariant Identifiers: chr18:g.28669439G>A (hg19) ; chr18:g.31089476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089476G>A , CM000680.2:g.31089476G>A	GRCh38
NC_000018.9:g.28669439G>A , CM000680.1:g.28669439G>A	GRCh37
NC_000018.8:g.26923437G>A	NCBI36
NG_008208.2:g.17950C>T , LRG_400:g.17950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.164C>T	ENSP00000507826.1:p.Thr55Ile
ENST00000251081.8:c.593C>T	ENSP00000251081.6:p.Thr198Ile
ENST00000280904.11:c.593C>T MANE Select	ENSP00000280904.6:p.Thr198Ile
ENST00000648081.1:c.164C>T	ENSP00000497441.1:p.Thr55Ile
ENST00000251081.6:c.593C>T	ENSP00000251081.6:p.Thr198Ile
ENST00000280904.10:c.593C>T	ENSP00000280904.6:p.Thr198Ile
NM_004949.4:c.593C>T	NP_004940.1:p.Thr198Ile
NM_024422.4:c.593C>T	NP_077740.1:p.Thr198Ile
XM_005258206.3:c.164C>T	XP_005258263.1:p.Thr55Ile
XM_005258206.4:c.164C>T	XP_005258263.1:p.Thr55Ile
NM_004949.5:c.593C>T	NP_004940.1:p.Thr198Ile
NM_024422.6:c.593C>T MANE Select	NP_077740.1:p.Thr198Ile